The hph-1 ENU-mutant mouse provides a model of tetrahydrobiopterin deficiency for studying hyperphenylalaninaemia, dopa-response dystonia, and vascular dysfunction. We have successively localized the hph-1 mutation to a congenic interval of 1.6-2.8 Mb, containing the GCH gene encoding GTP cyclohydrolase I (GTP-CH I). We used these data to establish a PCR method for genotyping wild type, hph-1 and heterozygote mice, and found that heterozygote animals have partial tetrahydrobiopterin deficiency. These new findings will extend the utility of the hph-1 mouse in studies of GTP-CH I deficiency.

Original publication

DOI

10.1016/j.ymgme.2004.04.006

Type

Journal article

Journal

Mol Genet Metab

Publication Date

07/2004

Volume

82

Pages

251 - 254

Keywords

Animals, Biopterin, Chromatography, High Pressure Liquid, Chromosome Mapping, Crosses, Genetic, DNA Primers, GTP Cyclohydrolase, Genetic Markers, Genotype, Mice, Mice, Inbred C57BL, Mice, Inbred CBA, Mice, Neurologic Mutants, Phenylketonurias, Polymerase Chain Reaction